PMID- 12494435
OWN - NLM
STAT- MEDLINE
DCOM- 20030509
LR  - 20211203
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 116A
IP  - 2
DP  - 2003 Jan 15
TI  - Mosaicism in a patient with Down syndrome reveals post-fertilization formation of 
      a Robertsonian translocation and isochromosome.
PG  - 159-63
AB  - It has been estimated that a few hundred children are born each year in the 
      United States with translocation Down syndrome. About 5% of the cases with Down 
      syndrome carry a Robertsonian translocation involving chromosome 21. The case 
      described here is a patient with Down syndrome who showed mosaicism for two cell 
      lines. Each cell line contains a different, de novo acrocentric rearrangement. We 
      constructed somatic cell hybrids from the patient's cells and determined the 
      parental origins of the rearrangements by molecular and fluorescence in situ 
      hybridization (FISH) analyses. The analysis showed that the rob(14q21q) formed 
      between a paternally inherited chromosome 21 and a maternally inherited 
      chromosome 14, indicating that this rearrangement formed post-zygotically. 
      Further molecular analysis also determined that the rea(21q21q) is an 
      isochromosome of paternal origin. The cell line containing the isochromosome is 
      unbalanced, resulting in trisomy 21. Because the same paternal chromosome 21 was 
      involved in both the isochromosome and the Robertsonian translocation, we 
      speculate that an unstable chromosome 21 was stabilized either through formation 
      of a rob(14q21q) or through formation of an isochromosome. The mechanism proposed 
      for the formation of the rob(14q21q) in this case is different from that for most 
      de novo rob(14q21q), but similar to a previously reported mosaic case of Down 
      syndrome.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Bandyopadhyay, Ruma
AU  - Bandyopadhyay R
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      Texas, USA.
FAU - McCaskill, Christopher
AU  - McCaskill C
FAU - Knox-Du Bois, Cami
AU  - Knox-Du Bois C
FAU - Zhou, Yaolin
AU  - Zhou Y
FAU - Berend, Sue Ann
AU  - Berend SA
FAU - Bijlsma, Emilia
AU  - Bijlsma E
FAU - Shaffer, Lisa G
AU  - Shaffer LG
LA  - eng
GR  - R01 GM56845/GM/NIGMS NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Cell Line
MH  - Chromosomes, Human, Pair 14/genetics
MH  - Chromosomes, Human, Pair 21/genetics
MH  - Down Syndrome/*genetics
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Isochromosomes/*genetics
MH  - Karyotyping
MH  - Models, Genetic
MH  - Mosaicism/*genetics
MH  - Prohibitins
MH  - *Translocation, Genetic
MH  - Zygote/metabolism
EDAT- 2002/12/21 04:00
MHDA- 2003/05/13 05:00
CRDT- 2002/12/21 04:00
PHST- 2002/12/21 04:00 [pubmed]
PHST- 2003/05/13 05:00 [medline]
PHST- 2002/12/21 04:00 [entrez]
AID - 10.1002/ajmg.a.10113 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2003 Jan 15;116A(2):159-63. doi: 10.1002/ajmg.a.10113.